Canonical Allele Identifier: CA1754465

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 998661
• ClinVar RCV Id: RCV001294549 ; RCV002538438 ; RCV002504428
• dbSNP Id: rs778904290
• ExAC: 2:88874686 T / A
• gnomAD v2: 2-88874686-T-A
• gnomAD v3: 2-88575168-T-A
• gnomAD v4: 2-88575168-T-A
• MyVariant Identifiers: chr2:g.88874686T>A (hg19) ; chr2:g.88575168T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575168T>A , CM000664.2:g.88575168T>A	GRCh38
NC_000002.11:g.88874686T>A , CM000664.1:g.88874686T>A	GRCh37
NC_000002.10:g.88655801T>A	NCBI36
NG_016424.1:g.57409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2143A>T
ENST00000682276.1:n.1760A>T
ENST00000682892.1:c.1862A>T	ENSP00000507214.1:p.Glu621Val
ENST00000682952.1:n.1954A>T
ENST00000684455.1:c.1528A>T
ENST00000684642.1:c.1712A>T	ENSP00000507355.1:p.Glu571Val
ENST00000684740.1:n.2493A>T
ENST00000303236.9:c.2315A>T MANE Select	ENSP00000307235.3:p.Glu772Val
ENST00000652099.1:c.2509A>T
ENST00000652736.1:n.2191A>T
ENST00000303236.7:c.2315A>T	ENSP00000307235.3:p.Glu772Val
ENST00000415570.1:c.1952A>T	ENSP00000412076.1:p.Glu651Val
ENST00000419748.5:c.1862A>T	ENSP00000408325.1:p.Glu621Val
ENST00000470706.1:n.49-91A>T
NM_001313915.1:c.1862A>T	NP_001300844.1:p.Glu621Val
NM_004836.5:c.2315A>T	NP_004827.4:p.Glu772Val
NM_004836.6:c.2315A>T	NP_004827.4:p.Glu772Val
NR_110236.1:n.1305T>A
XM_005264649.3:c.1631A>T	XP_005264706.1:p.Glu544Val
XM_017005376.2:c.1631A>T	XP_016860865.1:p.Glu544Val
NM_004836.7:c.2315A>T MANE Select	NP_004827.4:p.Glu772Val
NM_001313915.2:c.1862A>T	NP_001300844.1:p.Glu621Val